The oto-palato-digital syndrome: variable clinical expressions.

The oto-palato-digital (OPD) syndrome is a rare but well-defined disorder characterized by a skeletal dysplasia of the hands and feet, hearing loss, and anomalies of the palate. Since it was first described by Taybi in 1962, a little over 30 cases have been reported in the literature. A more lethal variant of the syndrome was described later by Fitch and was termed OPD type II. Several studies were conducted to determine the exact mode of inheritance of this syndrome, whereas others have focused on the characterization of the skeletal anomalies and their variations. Otologists were interested in determining the etiology of the associated hearing loss. We report 4 cases of patients with the spectrum of anomalies that characterize the OPD syndrome. These patients include 3 siblings and 1 unrelated patient who presented to our service complaining of hearing loss. The skeletal anomalies, special features, and audiologic findings are described and compared with those in previously reported cases. A discussion based on a literature review of the mode of inheritance, of variation in the clinical expression, and of the etiology of hearing loss is also included. Finally, we review and discuss the subdivision of this syndrome into the 2 types (I and II).